research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
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research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Isolation and Characterization of Mouse High-glycine/Tyrosine Proteins
Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research 223 Canonical and Dominant Negative Peroxisome Proliferator-Activated Receptor γ Isoforms are Differentially Expressed in Human Skin and Skin Appendages
Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research The pedicled temporoparietal fascial flap
The pedicled temporoparietal fascial flap is a reliable and versatile option for reconstructive surgery in the head and neck area.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research White piedra: molecular identification of Trichosporon inkin in members of the same family
A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research PLAU and SerpinB2 role in apoptosis in leprosy
PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research L'etude PCPT : regards d'un urologue intéressé
Finasteride may reduce prostate cancer risk.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin
Nested PCR can reliably identify fungal infections when traditional methods fail.
research Methylated CpG dinucleotides in 5-α reductase 2 gene might explain the finasteride-resistance in BPE patients
Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.